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Fuchs dystrophy

Fuchs dystrophy is an eye disease in which the innermost layer of cells in the cornea undergoes degenerative changes. This disorder usually affects both eyes. The cell layer, called the endothelium, is responsible for maintaining the proper amount of fluid in the cornea and as more and more cells are lost, fluid begins to accumulate in the cornea, causing swelling and corneal opacity. Fuchs dystrophy affects the thin layer of cells that line the back part of the cornea. These cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea.

At first, fluid may build up only during sleep, when the eye is closed. As the disease gets worse, small blisters may form. The blisters get bigger and may eventually break, causing eye pain. Fuchs dystrophy can also cause the shape of the cornea to change, leading to more vision problems.

Symptoms

Generally, symptoms can include:

  • Eye pain, and if the condition worsens, blisters
  • Eye sensitivity to light and glare
  • Foggy or blurred vision, at first only in the mornings
  • Seeing colored halos around lights
  • Worsening vision throughout the day
  • Diminished ability to see contrasts
  • Difficulty driving at night
  • Fluctuations in vision, especially early in the morning. As the disease worsens, these variations become more persistent during the day

Fuchs dystrophy usually develops over two stages:

  • Stage 1 may produce no symptoms or only mild symptoms. In this early stage, the swelling of the corneal cells usually occurs in the morning then tends to clear as the day progresses. Vision is worse in the morning because closing your eyes during sleep keeps moisture from evaporating out of the cornea.

 

Once the disease has progressed to Stage 2, vision no longer gets better later in the day. People with Stage 2 Fuchs dystrophy may have pain and be sensitive to light. Over time, some people with Stage 2 Fuchs dystrophy develop scarring at the center of their cornea. Once scarring is present, the patient may become more comfortable, but the film of scar tissue over the cornea reduces vision.

Prevention

Avoiding cataract surgery or taking special precautions during this surgery can help to reduce the course of the disorder.

Gene or region studied

  • 18q21.2
  • TCF4
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